Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs766432
rs766432
BCL11A
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.800 1.000 5 2007 2016
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 4 2007 2015
dbSNP: rs10172646
rs10172646
BCL11A
2 1.000 0.080 2 60493622 intron variant G/A snv 0.64 0.800 1.000 3 2007 2011
dbSNP: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.800 1.000 3 2007 2012
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.800 1.000 3 2007 2011
dbSNP: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.800 1.000 3 2007 2014
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.800 1.000 3 2007 2015
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.700 1.000 3 2008 2012
dbSNP: rs5006884
rs5006884
HBE1 ; HBG2 ; OR51B5 ; OR51B6
1 11 5352021 missense variant C/T snv 0.24 0.27 0.800 1.000 3 2010 2012
dbSNP: rs6706648
rs6706648
BCL11A
2 1.000 0.080 2 60494905 intron variant C/G;T snv 0.800 1.000 3 2007 2012
dbSNP: rs6732518
rs6732518
BCL11A
1 2 60481462 intron variant C/T snv 0.64 0.700 1.000 3 2007 2012
dbSNP: rs10445937
rs10445937 		3 2 60410521 intron variant G/A snv 0.39 0.700 1.000 2 2007 2008
dbSNP: rs10837540
rs10837540 		1 11 5193183 intergenic variant T/A snv 0.53 0.700 1.000 2 2008 2011
dbSNP: rs11884411
rs11884411 		2 2 60442359 upstream gene variant T/C snv 0.51 0.700 1.000 2 2007 2008
dbSNP: rs13027161
rs13027161
MIR4432HG
4 2 60380593 intron variant T/C snv 0.29 0.700 1.000 2 2007 2008
dbSNP: rs1320963
rs1320963 		5 6 135122074 intergenic variant A/G snv 0.35 0.700 1.000 2 2007 2011
dbSNP: rs1391619
rs1391619
HBE1 ; HBG2 ; OR51B5
1 11 5434699 intron variant G/A;C snv 0.700 1.000 2 2008 2011
dbSNP: rs1553934
rs1553934
MIR4432HG
3 2 60382761 intron variant G/C;T snv 0.700 1.000 2 2007 2008
dbSNP: rs1896294
rs1896294
BCL11A
2 1.000 0.080 2 60491939 intron variant C/G;T snv 0.800 1.000 2 2007 2011
dbSNP: rs2137281
rs2137281
MIR4432HG
3 2 60384873 non coding transcript exon variant C/T snv 0.29 0.700 1.000 2 2007 2008
dbSNP: rs243027
rs243027
MIR4432HG
3 2 60379872 intron variant T/A;G snv 0.700 1.000 2 2007 2011
dbSNP: rs243078
rs243078
MIR4432 ; MIR4432HG
2 2 60388168 intron variant A/G snv 0.42 0.700 1.000 2 2007 2008
dbSNP: rs243079
rs243079
MIR4432 ; MIR4432HG
2 2 60387893 intron variant A/C snv 0.42 0.700 1.000 2 2007 2008
dbSNP: rs4910742
rs4910742
HBE1 ; HBG2
3 11 5285279 intron variant G/A;T snv 0.800 1.000 2 2008 2011
dbSNP: rs6709302
rs6709302
BCL11A
1 2 60500494 intron variant G/A snv 0.30 0.700 1.000 2 2011 2012